List of variants reported as uncertain significance for PHGDH deficiency by Illumina Laboratory Services, Illumina

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)	rs151275800	0.00101
NM_006623.4(PHGDH):c.*140A>G	rs587687027	0.00095
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)	rs139063843	0.00083
NM_006623.4(PHGDH):c.165_166insGTAG	rs140037378	0.00070
NM_006623.4(PHGDH):c.834C>A (p.Val278=)	rs147866831	0.00051
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp)	rs587731325	0.00026
NM_006623.4(PHGDH):c.412-15C>T	rs368681081	0.00021
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys)	rs140979375	0.00019
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=)	rs374303746	0.00016
NM_006623.4(PHGDH):c.-79T>C	rs747803505	0.00013
NM_006623.4(PHGDH):c.390C>T (p.Asp130=)	rs148078511	0.00012
NM_006623.4(PHGDH):c.644-12G>A	rs370255821	0.00012
NM_006623.3(PHGDH):c.-183G>A	rs886045202	0.00008
NM_006623.3(PHGDH):c.-207G>A	rs150128831	0.00006
NM_006623.4(PHGDH):c.*28G>A	rs753765228	0.00006
NM_006623.4(PHGDH):c.809G>A (p.Arg270Gln)	rs375031910	0.00006
NM_006623.4(PHGDH):c.372G>A (p.Ala124=)	rs146740411	0.00005
NM_006623.4(PHGDH):c.916A>G (p.Met306Val)	rs587648058	0.00005
NM_006623.3(PHGDH):c.-222G>A	rs60544490	0.00002
NM_006623.4(PHGDH):c.1285G>C (p.Gly429Arg)	rs145854744	0.00002
NM_006623.4(PHGDH):c.400G>A (p.Glu134Lys)	rs139129607	0.00002
NM_006623.4(PHGDH):c.*58G>C	rs1652337689
NM_006623.4(PHGDH):c.*8G>A	rs1652335587
NM_006623.4(PHGDH):c.-11C>T	rs886045203
NM_006623.4(PHGDH):c.1078+10G>T	rs374994783
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=)	rs144484007
NM_006623.4(PHGDH):c.138G>A (p.Gln46=)	rs143217390
NM_006623.4(PHGDH):c.381G>A (p.Ser127=)	rs886045205
NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly)	rs756996899
NM_006623.4(PHGDH):c.507G>A (p.Met169Ile)	rs1651465371
NM_006623.4(PHGDH):c.511-13T>G	rs1571009081
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)	rs754326499
NM_006623.4(PHGDH):c.543G>A (p.Glu181=)	rs886045206
NM_006623.4(PHGDH):c.808C>T (p.Arg270Trp)	rs765756881

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